Canonical Allele Identifier: CA2192368372
Gene: ALPK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.84840521C= , CM000677.2:g.84840521C= GRCh38
NC_000015.9:g.85383752C= , CM000677.1:g.85383752C= GRCh37
NC_000015.8:g.83184756C= NCBI36
NG_054748.1:g.28891C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000258888.6:c.1242C= MANE Select ENSP00000258888.6:p.Ser414=
ENST00000258888.5:c.1848C= ENSP00000258888.5:p.Ser616=
NM_020778.4:c.1848C= NP_065829.3:p.Ser616=
NM_020778.5:c.1242C= MANE Select NP_065829.4:p.Ser414=
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